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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene Breakpoints

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Tumorigenic MoA (Mechanism of Action) Scenarios of Fusion Geness

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Fusion Genomic Features

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Fusion Gene ORF Annotations

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Fusion Protein Retained/Non-Retained Functional Features

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Fusion Transcript Sequences

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Fusion Protein Sequences

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Personalized Fusion Protein Sequences

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Fusion Gene Expressed Samples

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Related Drugs

Fusion gene:CHFR_ZNF605 (FusionGDB2 ID:HG55743TG100289635)

Fusion Gene Summary for CHFR_ZNF605

check button Fusion gene summary
Fusion gene informationFusion gene name: CHFR_ZNF605
Fusion gene ID: hg55743tg100289635
HgeneTgene
Gene symbol

CHFR

ZNF605

Gene ID

55743

100289635

Gene namecheckpoint with forkhead and ring finger domainszinc finger protein 605
SynonymsRNF116|RNF196-
Cytomap

12q24.33

12q24.33

Type of geneprotein-codingprotein-coding
DescriptionE3 ubiquitin-protein ligase CHFRRING finger protein 196RING-type E3 ubiquitin transferase CHFRcheckpoint with forkhead and ring finger domains, E3 ubiquitin protein ligasezinc finger protein 605
Modification date2024030520240308
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000266880, ENST00000315585, 
ENST00000432561, ENST00000450056, 
ENST00000541837, ENST00000443047, 
ENST00000537522, ENST00000541341, 
ENST00000266880, ENST00000315585, 
ENST00000432561, ENST00000443047, 
ENST00000450056, ENST00000541837, 
ENST00000537522, ENST00000541341, 
Fusion gene scores* DoF score* DoF score (Degree of Frequency) = # partners X # break points X # disease types
14 X 9 X 10=1260
* DoF score (Degree of Frequency) = # partners X # break points X # disease types
5 X 8 X 5=200
# samples 1931
** MAII score** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)
log2(19/1260*10)=-2.72935241005633
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)
log2(31/200*10)=0.632268215499513
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CHFR [Title/Abstract] AND ZNF605 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCHFR(133447309)-ZNF605(133522383), # samples:1


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Fusion Gene Breakpoints for CHFR_ZNF605


check button RNA-seq based exon junction arranged fusion gene breakpoints from 8 resources (TCGA, CCLE, cBioPortal, GenBank, ChimerDB, ChimerKB, ChildHoodFusions, and GTEx). For the expressed sample information, go to Fusion Gene Sample section.
HgeneHchrHbpTgeneTchrTbp
CHFRchr12133447309ZNF605chr12133522383


check button DNA-seq based exon junction arranged fusion gene breakpoints from dbVar. For the expressed sample information, go to Fusion Gene Sample section.
HgeneHchrHbpTgeneTchrTbpSV type
CHFRchr12133417789ZNF605chr12133524313DUP
CHFRchr12133419687ZNF605chr12133521253DUP
CHFRchr12133416964ZNF605chr12133526412DUP
CHFRchr12133415499ZNF605chr12133517100DUP
CHFRchr12133413721ZNF605chr12133528262DUP
CHFRchr12133413698ZNF605chr12133528312DUP
CHFRchr12133417802ZNF605chr12133525460DUP


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Tumorigenic MoA (Mechanism of Action) Scenarios of Fusion Genes for CHFR_ZNF605


check button To generate these tumorigenic scenario annotations, we implemented a deduction-first, retrieval-later computational framework. The pipeline first applies rule-guided reasoning across ten core mechanistic categories (M1–M10) derived from fusion gene biology to infer candidate mechanisms, tumorigenic scenarios, targeting points, and targeting backgrounds. To ensure empirical accountability, a governed Python workflow retrieves literature candidates via NCBI E-utilities and Europe PMC using tiered searches. Using JSON Schema-constrained LLM evidence judges (GPT-5.6 Luna and Terra), retrieved articles are evaluated for specificity and confidence without de novo PMID generation. This produces two distinct versions: a strict version restricted to high- or medium-confidence fusion-specific evidence, and an extended version incorporating broader gene-, pathway-, and contextual evidence.
* We have 10 tumorigenic mechanism categories of fusion genes as shown below.
Constitutively Active Kinases, Catalytic Domain Dysregulation, & Transmembrane Ligand FusionsAberrant Chimeric Transcription Factor / Fusion Transcription Factor ActivityEpigenetic Reprogramming / Histone Modifier DysregulationChromatin Remodeling DysregulationCondensate-Driven Transcriptional Rewiring / LLPPromoter / Enhancer HijackingDominant-Negative AntagonismCell Cycle / Checkpoint Bypass / RNA Processing DysregulationSubcellular Mislocalization / Spatial DysregulationNuclear Body / Sub-organellar Architecture Disruption & Differentiation Blockade

* Strict version: Restricted to high- or medium-confidence fusion-specific evidence.
Fusion Gene NameMechanism CategoryMechanism PubMedTumorigenic ScenariosTumorigenic Scenario PubMedTargeting PointsTargeting PubMedMechanism BackgroundMechanism Background PubMed

* Extended version: Includes all strict-level fusion evidence plus broader gene-, pathway-, and low-confidence contextual evidence.
Fusion Gene NameMechanism CategoryMechanism PubMedTumorigenic ScenariosTumorigenic Scenario PubMedTargeting PointsTargeting PubMedMechanism BackgroundMechanism Background PubMed

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneCHFR

GO:0006511

ubiquitin-dependent protein catabolic process

19182791


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Fusion Genomic Features for CHFR_ZNF605


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence) of In-frame fusion genes. FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
CHFRchr12133447309-ZNF605chr12133522383-2.62e-029.74e-01


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence) of 5UTR-3CSD fusion genes (N-truncated cases).
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence) of 5CDS-3UTR fusion genes (C-truncated cases).
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of six genomic regulatory feature tracks across a ±5 kb window centered on the fusion breakpoints. We input the breakpoint sequences into AlphaGenome and obtained predicted genome tracks at single-base-pair resolution for each modality by running a single forward pass over the reference sequence. Specifically, for each breakpoint, AlphaGenome processed and returned predicted track data across diverse modalities, which were then averaged across all tracks within each output type and visualized across the ±5 kb window. The left panel shows the 5'-gene breakpoint ±5 kb area, and the right panel shows the 3'-gene breakpoint area, with tracks grouped by category: chromatin accessibility (DNase-seq, ATAC-seq), active transcription (RNA-seq, CAGE), and chromatin binding (ChIP-Histone, ChIP-TF).

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Fusion Gene ORF Annotations for CHFR_ZNF605

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-5UTRENST00000266880ENST00000331711CHFRchr12

133447309

-ZNF605chr12

133522383

-
5CDS-5UTRENST00000266880ENST00000360187CHFRchr12

133447309

-ZNF605chr12

133522383

-
5CDS-5UTRENST00000266880ENST00000392321CHFRchr12

133447309

-ZNF605chr12

133522383

-
5CDS-5UTRENST00000315585ENST00000331711CHFRchr12

133447309

-ZNF605chr12

133522383

-
5CDS-5UTRENST00000315585ENST00000360187CHFRchr12

133447309

-ZNF605chr12

133522383

-
5CDS-5UTRENST00000315585ENST00000392321CHFRchr12

133447309

-ZNF605chr12

133522383

-
5CDS-5UTRENST00000432561ENST00000331711CHFRchr12

133447309

-ZNF605chr12

133522383

-
5CDS-5UTRENST00000432561ENST00000360187CHFRchr12

133447309

-ZNF605chr12

133522383

-
5CDS-5UTRENST00000432561ENST00000392321CHFRchr12

133447309

-ZNF605chr12

133522383

-
5CDS-5UTRENST00000450056ENST00000331711CHFRchr12

133447309

-ZNF605chr12

133522383

-
5CDS-5UTRENST00000450056ENST00000360187CHFRchr12

133447309

-ZNF605chr12

133522383

-
5CDS-5UTRENST00000450056ENST00000392321CHFRchr12

133447309

-ZNF605chr12

133522383

-
5UTR-5UTRENST00000541837ENST00000331711CHFRchr12

133447309

-ZNF605chr12

133522383

-
5UTR-5UTRENST00000541837ENST00000360187CHFRchr12

133447309

-ZNF605chr12

133522383

-
5UTR-5UTRENST00000541837ENST00000392321CHFRchr12

133447309

-ZNF605chr12

133522383

-

check buttonORFfinder Result Based On The Fusion Transcript Sequences of the In-frame Fusion Genes.
HenstTenstHgeneHchrHbpTgeneTchrTbpSeq length
(transcript)
Seq length
(peptide)

check buttonORFfinder Result Based On The Fusion Transcript Sequences of the 5UTR-3CDS Fusion Genes for N-Truncated Protein Search.
HenstTenstHgeneHchrHbpTgeneTchrTbpSeq length
(transcript)
Seq length
(peptide)

check buttonORFfinder Result Based On The Fusion Transcript Sequences of the 5CDS-3UTR Fusion Genes for C-Truncated Protein Search.
HenstTenstHgeneHchrHbpTgeneTchrTbpSeq length
(transcript)
Seq length
(peptide)

check buttonDeepORF Prediction of The Coding Potential Based on The Fusion Transcript Sequence of In-frame Fusion Genes. DeepORF is a Coding Potential Classifier Based on Convolutional Neural Network by Comparing the Real Ribo-seq Data. If the No-coding Score < 0.5 and Coding Score > 0.5, Then The In-frame Fusion Transcript is Predicted as Being Likely Translated.
HenstTenstHgeneHchrHbpTgeneTchrTbpNo-coding scoreCoding score

check buttonDeepORF Prediction of The Coding Potential Based on The Fusion Transcript Sequence of 5UTR-3CDS Fusion Genes (Potential N-Truncated Proteins).
HenstTenstHgeneHchrHbpTgeneTchrTbpNo-coding scoreCoding score

check buttonDeepORF Prediction of The Coding Potential Based on The Fusion Transcript Sequence of 5CDS-3UTR Fusion Genes (Potential C-Truncated Proteins).
HenstTenstHgeneHchrHbpTgeneTchrTbpNo-coding scoreCoding score

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Fusion Protein Retained/Non-Retained Functional Features for CHFR_ZNF605

check buttonProtein Level Annotation from FGviewer
* Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at download page. Minus value of BPloci means that the break pointn is located before the CDS.
fgviewer annotation
- In-frame and retained protein feature among the 13 regional features (visualization across fusion protein length).
No matching images found for ${hg}_${tg}.

- In-frame and retained protein feature among the 13 regional features (texts).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


check button - Retained PPIs in in-frame fusion.
PartnerHgeneHbpTgeneTbpENSTUniProtStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerHgeneHbpTgeneTbpENSTUniProtStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Fusion Transcript Sequence for CHFR_ZNF605

check button In-frame Fusion Transcript Sequences.

check button N-Truncated Transcript (5UTR-3CDS) Sequences

check button C-Truncated Transcript (5CDS-3UTR) Sequences

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Fusion Protein Sequence for CHFR_ZNF605

check button In-frame Fusion Protein Sequences.

check button N-Truncated Protein (5UTR-3CDS) Sequences

check button C-Truncated Protein (5CDS-3UTR) Sequences

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Personalized Fusion Protein Sequence for CHFR_ZNF605


check button TCGA Kinase/DNA-binding Domain Mutated Fusion Protein Sequences
NumGene GroupDomain LociFusion Protein IDFusion Gene NamePartnerMutated Residue in WT ProteinSeq. LengthMutated Residue in Fusion Protein

check button CCLE Kinase/DNA-binding Domain Mutated Fusion Protein Sequences

NumGene GroupDomain LociFusion Protein IDFusion Gene NamePartnerMutated Residue in WT ProteinSeq. LengthMutated Residue in Fusion Protein

check button TCGA All Mutated Fusion Protein Sequences


Fusion Protein IDSample IDMutated PartnerAAchange in WTSeq. LengthAAchange in Fusion

check button CCLE All Mutated Fusion Protein Sequences


Fusion Protein IDSample IDMutated PartnerAAchange in WTSeq. LengthAAchange in Fusion

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Fusion Gene Exprssed Samples for CHFR_ZNF605


check buttonRNA-seq based fusion gene expressed samples.
SourceStudyDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDBBRCATCGA-A8-A09Q-01ACHFR

chr12

133447309-ZNF605

chr12

133522383

-

check buttonDNA-seq based fusion gene expressed samples.
SourceStudyDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrandSV type
dbVarnstd100Unknown_CellCHFR

chr12

133417789ZNF605

chr12

133524313

DUP
dbVarnstd100Unknown_CellUnknown_Set_9894422CHFR

chr12

133419687ZNF605

chr12

133521253

DUP
dbVarnstd122Unknown_CellCHFR

chr12

133416964ZNF605

chr12

133526412

DUP
dbVarnstd122Unknown_CellCHFR

chr12

133416964ZNF605

chr12

133526412

DUP
dbVarnstd166Unknown_CellCHFR

chr12

133415499ZNF605

chr12

133517100

DUP
dbVarnstd200Unknown_CellCHFR

chr12

133413721ZNF605

chr12

133528262

DUP
dbVarnstd223Unknown_CellCHFR

chr12

133413698ZNF605

chr12

133528312

DUP
dbVarnstd229Unknown_CellCHFR

chr12

133413721ZNF605

chr12

133528262

DUP
dbVarnstd239Unknown_Cell200162510108_R07C02CHFR

chr12

133417802ZNF605

chr12

133525460

DUP
dbVarnstd54Unknown_CellUnknown_Set_9894422CHFR

chr12

133419687ZNF605

chr12

133521253

DUP


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Related Drugs for CHFR_ZNF605


check button PubMed Abstract Search With ['A-B' AND 'drug'], ['A::B' AND 'drug']
* For more details on the Studied, Reported, Approved Drugs targeting this fusion gene, Go to FusionPub.
PMIDFusion Gene NameDrugStudy Title

check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status